Paolo Simi
Pisa, Italy
Last Updated: 09/26/2026
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Found 21 publications
DPYD*6 plays an important role in fluoropyrimidine toxicity in addition to DPYD*2A and c.2846A>T: a comprehensive analysis in 1254 patients.
Journal: The pharmacogenomics journal
Published: March 27, 2018
Gene editing of DNAH11 restores normal cilia motility in primary ciliary dyskinesia.
Journal: Journal of medical genetics
Published: September 23, 2015
Discovery of novel mutations in the dihydropyrimidine dehydrogenase gene associated with toxicity of fluoropyrimidines and viewpoint on preemptive pharmacogenetic screening in patients.
Journal: The EPMA journal
Published: July 30, 2015
17q12 microduplications: a challenge for clinicians.
Journal: American journal of medical genetics. Part A
Published: June 24, 2014
A 17q duplication prenatally detected.
Journal: Taiwanese journal of obstetrics & gynecology
Published: May 27, 2014
625 kb microduplication at Xp22.12 including RPS6KA3 in a child with mild intellectual disability.
Journal: Journal of human genetics
Published: April 03, 2014
Valproate Treatment in an ALS Patient Carrying a c.194G>A Spastin Mutation and SMN2 Homozygous Deletion.
Journal: Case reports in neurological medicine
Published: February 26, 2014
Role of 18F-DOPA PET/CT in diagnosis and follow-up of adrenal and extra-adrenal paragangliomas.
Journal: Clinical nuclear medicine
Published: December 05, 2013
Mannose-binding lectin 2 gene polymorphism and lung damage in primary ciliary dyskinesia.
Journal: Pediatric pulmonology
Published: July 28, 2013
FOLFOXIRI plus bevacizumab as first-line treatment in BRAF mutant metastatic colorectal cancer.
Journal: European journal of cancer (Oxford, England : 1990)
Published: May 28, 2013
Hereditary spastic paraparesis in adults. A clinical and genetic perspective from Tuscany.
Journal: Clinical neurology and neurosurgery
Published: April 20, 2013
Last Updated: 09/26/2026